Canonical Allele Identifier: CA454256836

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30665929C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626313C>T , CM000669.2:g.30626313C>T	GRCh38
NC_000007.13:g.30665929C>T , CM000669.1:g.30665929C>T	GRCh37
NC_000007.12:g.30632454C>T	NCBI36
NG_007942.1:g.36749C>T , LRG_243:g.36749C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1693C>T MANE Select	ENSP00000373918.3:p.Leu565=
ENST00000444666.6:c.1693C>T	ENSP00000415447.2:p.Leu565=
ENST00000470392.2:n.1783C>T
ENST00000485784.2:n.1772C>T
ENST00000674616.1:c.*1407C>T	ENSP00000502408.1:n.*1407C>T
ENST00000674643.1:c.*793C>T	ENSP00000501636.1:n.*793C>T
ENST00000674737.1:c.*1031C>T	ENSP00000502464.1:n.*1031C>T
ENST00000674807.1:c.1614-2247C>T	ENSP00000502814.1:n.1614-2247C>T
ENST00000674815.1:c.1324C>T	ENSP00000502799.1:p.Leu442=
ENST00000674851.1:c.1324C>T	ENSP00000502451.1:p.Leu442=
ENST00000674969.1:n.3566C>T
ENST00000675051.1:c.1492C>T	ENSP00000502296.1:p.Leu498=
ENST00000675529.1:c.*1563C>T	ENSP00000501655.1:n.*1563C>T
ENST00000675587.1:n.2525C>T
ENST00000675651.1:c.1693C>T	ENSP00000502513.1:p.Leu565=
ENST00000675693.1:c.1525C>T	ENSP00000502174.1:p.Leu509=
ENST00000675810.1:c.1591C>T	ENSP00000502743.1:p.Leu531=
ENST00000675859.1:c.1614-2247C>T	ENSP00000502033.1:n.1614-2247C>T
ENST00000675863.1:n.1701C>T
ENST00000675886.1:n.7733C>T
ENST00000676088.1:c.*1635C>T	ENSP00000501884.1:n.*1635C>T
ENST00000676140.1:c.*638C>T	ENSP00000502571.1:n.*638C>T
ENST00000676164.1:c.*1144C>T	ENSP00000501986.1:n.*1144C>T
ENST00000676210.1:c.*982C>T	ENSP00000502373.1:n.*982C>T
ENST00000676259.1:c.*1125C>T	ENSP00000501980.1:n.*1125C>T
ENST00000676403.1:c.1693C>T	ENSP00000502681.1:p.Leu565=
ENST00000389266.7:c.1693C>T	ENSP00000373918.3:p.Leu565=
ENST00000444666.5:c.214C>T	ENSP00000415447.1:p.Leu72=
ENST00000470392.1:n.415C>T
NM_001316772.1:c.1531C>T	NP_001303701.1:p.Leu511=
NM_002047.2:c.1693C>T , LRG_243t1:c.1693C>T	NP_002038.2:p.Leu565=
NM_002047.3:c.1693C>T	NP_002038.2:p.Leu565=
XM_006715686.1:c.1324C>T	XP_006715749.1:p.Leu442=
XM_006715686.2:c.1324C>T	XP_006715749.1:p.Leu442=
NM_002047.4:c.1693C>T MANE Select	NP_002038.2:p.Leu565=